N99S (p.Asn99Ser) variant of ABCB1 (ATP-dependent translocase ABCB1)
N99S (p.Asn99Ser) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
N99S (p.Asn99Ser) variant details
- p.Asn99Ser
- gnomAD rs201641280
- Missense
- Variant Prioritization Score for Impact Estimate 0.055
- CADD 0.16
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available